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FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

Author:

Daniele Ghezzi,Ann Saada,Pio D'Adamo,Erika Fernandez-Vizarra,Paolo Gasparini,Valeria Tiranti,Orly Elpeleg,Massimo Zeviani

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

12 September 2008

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